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50945 TBX22

50945

TBX22

T-box 22

protein-coding

Homo sapiens

基因描述

Type Description
Definition T-box 22

研究结论

Date Results Publications
2018-10-27 12:02:00 Findings indicate the important role of T-box 22 protein (TBX22) in familial cases with X-linked cleft palate. 29932061
2016-06-28 10:47:00 we analysed two TBX22 promoter rs7055763 and rs41307258 single-nucleotide polymorphisms (SNPs) in 173 patients with NSCLP and 176 normal controls of south Indian origin using Kbioscience KASPar chemistry 25918826
2015-04-18 10:15:00 These results suggest that a loss-of-function mutation in the X-linked TBX22 promoter may cause the cleft palate through disruption of TBX22-ETS-1 pathway. 25373698
2014-01-18 10:07:00 TBX22 is the gene underlying Abruzzo-Erickson syndrome. 22784330
2011-06-04 10:16:00 5 putative missense mutations were identified, 3 located in T-box binding domain (R120Q, R126W, and R151L) that affects DNA binding and/or transcriptional repression. 2 novel C-terminal mutations, P389Q and S400Y, did not affect TBX22 activity. 21248356

名称对应

Type IDs
Synonymous ABERS, CLPA, CPX, TBXX, dJ795G23.1
Gene
UniProtKB-ID: TBX22_HUMAN, B3KUL8_HUMAN
UniprotKB: Q9Y458, B3KUL8
UniParc: UPI000153C47C, UPI00001377ED, UPI0000000DDD
EMBL: AY035371, AF251684, AK097514, BC014194, CH471104, AL031000
Ensembl: ENSG00000122145, ENSG00000277800
KO: hsa:50945
Nucleutide sequences
EMBL-CDS: AAH14194.2, EAW98588.1, AAG23749.1, AAK63189.1, BAG53480.1
Ensembl_TRS: ENST00000373294, ENST00000619509, ENST00000373296, ENST00000628957
Protein sequencees
Ensembl_PRO: ENSP00000362390, ENSP00000362393, ENSP00000479825, ENSP00000487295
RefSeq: NP_001103348.1, NP_001103349.1, NP_058650.1, NP_001290404.1
Others
UniRef100: UniRef100_B3KUL8, UniRef100_Q9Y458
UniRef90: UniRef90_B3KUL8, UniRef90_Q9Y458
UniRef50: UniRef50_B3KUL8, UniRef50_Q9Y458
UniGene: Hs.374253
CCDS: CCDS14445.1

全选

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